A case of cowden disease with multiple primary cancer

Kanayama, Yasuyo; Noshima, Shinji; Samura, M; Okazaki, Mitsuyoshi; Zenpo, Nobuya; Kamei, Toshiaki; Kurata, Satoru

doi:10.3919/jjsa.72.3026

Cited by 1 publication

(1 citation statement)

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“…It remains controversial how the abnormality of this gene function may affect the prognosis of breast cancer patients. Previous reports of cases with CS revealed that most breast cancers were hormone receptor-positive including the present case (Table 1 ) [ 12 – 25 ]. Based on the history of the present case representing a slow-growing tumor, the clinical course of this case may be favorable.…”

Section: Case Presentationsupporting

confidence: 59%

Hereditary breast cancer associated with Cowden syndrome-related PTEN mutation with Lhermitte-Duclos disease

et al. 2017

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BackgroundCowden syndrome is characterized by multiple hamartomas in various tissues, including the skin, brain, breast, thyroid, mucous membrane, and gastrointestinal tract, and is reported to increase the risk of malignant disease.Case presentationWe describe the case of a 52-year-old woman in whom a tumor was diagnosed in the left cerebellar hemisphere and treated by surgical resection. Phosphatase and tensin homolog (PTEN) mutation in exon 8 insertion was found in the brain tumor tissue and leukocytes. This finding supported the diagnosis of Cowden syndrome. She consequently developed endometrial cancer and underwent abdominal total hysterectomy with bilateral salpingo-oophorectomy. Four years later, hormone receptor-positive breast cancer was found in the right breast, and breast-conserving surgery with radiation therapy and sentinel lymph node biopsy was performed.ConclusionsHerein, we describe a patient who was diagnosed as having familial breast cancer associated with PTEN mutation-related Cowden syndrome. We also reviewed reports of this syndrome in the literature for disease appraisal.

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Section: Case Presentationsupporting

confidence: 59%